Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships

Vasco Sequeira; E Rosalie Witjas-Paalberends; Diederik W D Kuster; Jolanda van der Velden

doi:10.1007/s00424-013-1400-3

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships

Pflugers Arch. 2014 Feb;466(2):201-6. doi: 10.1007/s00424-013-1400-3. Epub 2013 Nov 17.

Authors

Vasco Sequeira¹, E Rosalie Witjas-Paalberends, Diederik W D Kuster, Jolanda van der Velden

Affiliation

¹ Department of Physiology, Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center, van der Boechorststraat 7, 1081, BT, Amsterdam, The Netherlands.

PMID: 24240729
DOI: 10.1007/s00424-013-1400-3

Abstract

Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM). In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cardiomyopathy, Hypertrophic / genetics
Cardiomyopathy, Hypertrophic / physiopathology*
Carrier Proteins / genetics*
Carrier Proteins / metabolism
Humans
Mutation
Myocardial Contraction / drug effects
Myocardial Contraction / physiology*
Myocardium / metabolism*
Myocytes, Cardiac / physiology

Substances

Carrier Proteins
myosin-binding protein C